Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.700 1.000 1 2012 2012
dbSNP: rs10737680
rs10737680
CFH
9 0.827 0.080 1 196710325 intron variant A/C snv 0.44 0.700 1.000 1 2015 2015
dbSNP: rs10922109
rs10922109
CFH
6 0.827 0.080 1 196735502 intron variant C/A snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs121913059
rs121913059
CFH
16 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.700 1.000 1 2016 2016
dbSNP: rs148553336
rs148553336 		4 0.851 0.040 1 196644043 intergenic variant T/C snv 7.7E-03 0.700 1.000 1 2016 2016
dbSNP: rs187328863
rs187328863
KCNT2
4 0.851 0.040 1 196411028 intron variant C/T snv 1.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs191281603
rs191281603
CFHR5
4 0.851 0.040 1 196989521 intron variant C/G;T snv 4.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs35292876
rs35292876
CFH
4 0.851 0.040 1 196737512 synonymous variant C/T snv 1.0E-02 8.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs570618
rs570618
CFH
6 0.827 0.040 1 196687934 intron variant T/G snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs58978565
rs58978565
TNR
3 0.882 0.040 1 175376466 intron variant -/AGAGT ins 0.37 0.700 1.000 1 2018 2018
dbSNP: rs61818925
rs61818925 		4 0.851 0.040 1 196846320 upstream gene variant T/G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.700 1.000 1 2017 2017
dbSNP: rs11884770
rs11884770
COL4A3 ; MFF-DT
4 0.851 0.040 2 227222204 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs4482537
rs4482537 		2 0.925 0.040 2 48825116 intron variant C/T snv 0.52 0.700 1.000 1 2017 2017
dbSNP: rs140647181
rs140647181
LOC105374007
4 0.851 0.040 3 99461824 intergenic variant T/C snv 1.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs55975637
rs55975637
COL8A1
4 0.851 0.040 3 99701009 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs62247658
rs62247658
ADAMTS9-AS2
4 0.851 0.040 3 64729479 intron variant C/T snv 0.42 0.700 1.000 1 2016 2016
dbSNP: rs10033900
rs10033900
CFI
7 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.700 1.000 2 2012 2016
dbSNP: rs141853578
rs141853578
CFI
6 0.807 0.040 4 109764664 missense variant C/T snv 4.2E-04 3.9E-04 0.700 1.000 1 2016 2016
dbSNP: rs114092250
rs114092250 		4 0.851 0.040 5 35494346 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs62358361
rs62358361
C9
5 0.851 0.040 5 39327786 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs114254831
rs114254831
PBX2
5 0.827 0.040 6 32187804 intron variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs116503776
rs116503776
CYP21A2 ; SKIV2L
5 0.827 0.040 6 31962685 intron variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs12661281
rs12661281
CYP21A2 ; SLC44A4
3 0.882 0.040 6 31874821 missense variant T/A snv 0.15 0.11 0.700 1.000 1 2015 2015
dbSNP: rs181705462
rs181705462
CYP21A2 ; STK19
4 0.851 0.040 6 31979250 intron variant G/C;T snv 0.700 1.000 1 2016 2016